title: Chromosome mosaicism in hypomelanosis of Ito.
abstract: Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.
authors.affiliation: Division of Medical Genetics, Children's Hospital, Pittsburgh, Pennsylvania.
authors.forename: C L
authors.initials: CL
authors.lastname: Ritter
authors.forename: M W
authors.initials: MW
authors.lastname: Steele
authors.forename: S L
authors.initials: SL
authors.lastname: Wenger
authors.forename: B A
authors.initials: BA
authors.lastname: Cohen
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics*; D012303:Ring Chromosomes
chemical_list: D005819:Genetic Markers